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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NRL
(L160P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NRL
(M96T)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
NRL
(L75fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
NRL
(S50T)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 27
GPathogenic
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